All Tests for the Center for Precision Diagnostics

Test NamePanelDisease NameGeneLaboratoryCPT Code
ADAMTS2 gDNA TestingEhlers-Danlos Syndrome type VIIC (Dermatosparaxis)
ADAMTS2
Collagen Diagnostic Lab 81479
ALPL gDNA TestingHypophosphatasia
ALPL
Collagen Diagnostic Lab 81479
C1S and C1R gDNA TestingEhlers-Danlos Syndrome type VIII (Periodontal)
C1R, C1S
Collagen Diagnostic Lab 81479
COL1A1 and COL1A2 gDNA TestingOsteogenesis Imperfecta
COL1A1, COL1A2
Collagen Diagnostic Lab 81408 x 2
COL3A1 gDNA testingEhlers-Danlos Syndrome type IV (Vascular EDS)
COL3A1
Collagen Diagnostic Lab 81479
COL4A1 and COL4A2 gDNA TestingVascular disease
COL4A1, COL4A2
Collagen Diagnostic Lab 81408 x 1, 81479 x 1
COL4A5 gDNA testingAlport syndrome (X-linked)
COL4A5
Collagen Diagnostic Lab 81408
COL5A1 and COL5A2 gDNA TestingEhlers Danlos Syndrome, Classic Type (Types I and II)
COL5A1, COL5A2
Collagen Diagnostic Lab 81479
FBN1 gDNA TestingMarfan syndrome
FBN1
Collagen Diagnostic Lab 81408
FKBP14 gDNA TestingFKBP14-related Ehlers-Danlos Syndrome
FKBP14
Collagen Diagnostic Lab 81479
IFITM5 gDNA TestingOsteogenesis Imperfecta
IFITM5
Collagen Diagnostic Lab 81479
PLOD1 gDNA TestingEhlers Danlos Syndrome type VI (Ocular-scoliotic)
PLOD1
Collagen Diagnostic Lab 81479
PLS3 gDNA TestingX-Linked Osteoporosis
PLS3
Collagen Diagnostic Lab 81479
Alport syndrome Panel3 gene panelAlport syndrome
COL4A3, COL4A4, COL4A5
Collagen Diagnostic Lab 81408 x 2, 81407 x 1
Arterial Aneurysm Panel23 gene panelFamilial Aneurysm, Marfan Syndrome, Ehlers-Danlos Syndrome type IV
ACTA2, BGN, CBS, COL3A1, FBN1, FBN2, FOXE3, LOX, MAT2A, MFAP5, MYH11, MYLK, PLOD3, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Collagen Diagnostic Lab 81410
Autosomal Dominant OI Panel3 gene panelOsteogenesis Imperfecta
COL1A1, COL1A2, IFITM5
Collagen Diagnostic Lab 81408 x 2, 81479 x 1
Caffey Disease TestingCaffey Disease, Infantile Cortical Hyperostosis
COL1A1
Collagen Diagnostic Lab 81403
Cardiac Arrhythmia PanelYesCardiac Arrhythmia
ABCC9, ANK2, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CASQ2, CAV3, DES, DPP6, DSC2, DSG2, DSP, EMD, GJA5, GLA, GNAI2, GPD1L, HCN4, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYH6, NKX2-5, NPPA, PKP2, PLN, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, TMEM43, TNNT2, TRDN, TRPM4, TTN
Northwest Clinical Genomics Lab 81413
Cardiomyopathy PanelYesCardiomyopathy
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, BRAF, CASQ2, CAV3, CBL, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL2, FKTN, GAA, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SGCD, SHOC2, SOS1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, VCL
Northwest Clinical Genomics Lab 81439
Classical and Vascular Ehlers-Danlos Syndrome Panel3 gene panelEhlers Danlos Syndrome, Classic Type (Types I and II); Vascular Ehlers-Danlos Syndrome (Type IV)
COL3A1, COL5A1, COL5A2
Collagen Diagnostic Lab 81479
Complex EDS-like Disorders6 gene panelComplex EDS-like Disorders
B3GALT6, B3GAT3, B4GALT7, CHST14, CHST3, XYLT1
Collagen Diagnostic Lab 81479
Comprehensive Cardiac Arrhythmia/Cardiomyopathy PanelYesCardiac Arrhythmia and/or Cardiomyopathy
ABCC9, ACTC1, ACTN2, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CASQ2, CAV3, CBL, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DPP6, DSC2, DSG2, DSP, DTNA, EMD, FHL2, FKTN, GAA, GATAD1, GJA5, GLA, GNAI2, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MURC, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SHOC2, SNTA1, SOS1, TAZ, TCAP, TMEM43, TMPO, TNNC1, TNNI3, TNNT2, TRDN, TRPM4, TTN, TTR, VCL
Northwest Clinical Genomics Lab 81479
Comprehensive Dominant OI Panel8 gene panelOsteogenesis Imperfecta
ALPL, COL1A1, COL1A2, IFITM5, LRP5, P4HB, PLS3, WNT1
Collagen Diagnostic Lab 81479
Comprehensive EDS Panel14 gene panelEhlers-Danlos Syndrome
ADAMTS2, ATP7A, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13
Collagen Diagnostic Lab 81479
Constitutional Cytogenomic Microarray Analysis22q11.2 Deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; Williams syndrome; 1p36 microdeletion syndrome; Beckwith-Wiedemann syndrome; uniparental disomy; other microdeletion and microduplication conditions
Whole Genome
Clinical Cytogenomics Laboratory 81229
Cutis Laxa Panel13 gene panelCutis Laxa
ALDH18A1, ATP6V1A, ATP6V1E1, ATP6VO82, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, SLC2A10
Collagen Diagnostic Lab 81479
Deletion/Duplication AnalysisAll diseases
Various Genes
Collagen Diagnostic Lab 81411; 81228
Ectopia Lentis Panel4 gene panelEctopia Lentis
ADAMTS10, ADAMTS17, ADAMTSL4, CBS, FBN1
Collagen Diagnostic Lab 81479
EDS type VII TestingEhlers-Danlos Syndrome type VII
COL1A1, COL1A2
Collagen Diagnostic Lab 81479 x 2
Exome SequencingPossible Genetic Disorder
Coding sequence of the genome
Northwest Clinical Genomics Lab 81415 Proband 81416 Comparator
Exome Sequencing Re-analysisPossible Genetic Disorder
Coding sequence of the genome
Northwest Clinical Genomics Lab 81417
Flow Cytometry – Endoscopic Biopsy
DNA Content/Cell Cycle Analysis
Clinical Flow Laboratory
Flow Cytometry – Fresh Specimens
DNA Content/Cell Cycle Analysis
Clinical Flow Laboratory
Flow Cytometry – Paraffin Specimens
DNA Content/Cell Cycle Analysis
Clinical Flow Laboratory
Genome SequencingPossible Genetic Disorder
Whole Genome Sequence
Northwest Clinical Genomics Lab 81425 Proband 81426 Comparator
Genome Sequencing Re-analysisPossible Genetic Disorder
Whole Genome Sequence
Northwest Clinical Genomics Lab 81427
Marfan Syndrome and Loeys-Dietz Panel8 gene panelMarfan Syndrome; Loeys-Dietz Syndrome
FBN1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
Collagen Diagnostic Lab 81479
Maternal Cell Contamination (MCC) Studies
Collagen Diagnostic Lab 81265
Movement Disorder PanelsYesHeritable Movement Disorders
ABCB7, ABCD1, ABHD12, ACAT1, ACOX1, ACTB, ACVR1, ADAR, ADCK3, ADCY5, ADD3, ADGRG1, AFG3L2, AHI1, ALAS2, ALDH5A1, ALG6, ALS2, AMACR, AMPD2, ANG, ANO10, ANO3, ANO5, AP1S2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARHGEF28, ARL13B, ARL6, ARL6IP1, ARSA, ARSI, ARX, ASAH1, ATCAY, ATL1, ATM, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP7A, ATP7B, ATP8A2, AUH, B4GALNT1, BAG3, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BEAN1, BICD2, BIN1, BSCL2, BTD, C10orf2, C12orf65, C19orf12, C5orf42, CA8, CACNA1A, CACNB4, CAMTA1, CASQ1, CAV3, CC2D2A, CCDC28B, CCDC78, CCDC88C, CCT5, CEP290, CEP41, CFL2, CHCHD10, CHMP2B, CIZ1, CLCN2, CLN3, CLN5, CLPP, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, COMT, COX20, CP, CRAT, CRYAB, CSF1R, CSTB, CTC1, CTSD, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DARS2, DCAF17, DCTN1, DDB2, DDC, DDHD1, DDHD2, DES, DLAT, DNA2, DNAJC13, DNAJC19, DNAJC3, DNAJC5, DNAJC6, DNM2, DNMT1, DRD2, DRD5, DYSF, DYT1, EARS2, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, ELOVL4, ELOVL5, ENTPD1, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERLIN2, FA2H, FASTKD2, FBXL4, FBXO7, FGF14, FHL1, FKBP14, FLNC, FLRT1, FLVCR1, FOXG1, FOXRED1, FTL, FUS, GAD1, GALC, GAMT, GAN, GARS, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GFAP, GIGYF2, GJA1, GJB1, GJC2, GLB1, GNAL, GNE, GOSR2, GRID2, GRM1, HACD1, HARS, HEPACAM, HEXA, HEXB, HNRNPA1, HNRNPA2B1, HPRT1, HSPB1, HSPB3, HSPB8, HSPD1, HTRA2, IGHMBP2, ISCU, ITM2B, ITPR1, KANK1, KBTBD13, KCNA1, KCNC3, KCND3, KCNJ10, KCNMA1, KCNQ2, KDM5C, KIAA0196, KIF1A, KIF1C, KIF5C, KIF7, KLHL40, KLHL41, KLHL9, L2HGDH, LAMP2, LARS2, LDB3, LMNB1, LMOD3, LRRK2, LYST, MAG, MAPT, MARS, MARS2, MAT1A, MATR3, MCOLN1, MECP2, MEGF10, MKKS, MKS1, MLC1, MMADHC, MPV17, MR1, MRE11A, MSTN, MTHFR, MTM1, MTMR14, MTPAP, MYF6, MYH14, MYH2, MYH7, MYOT, NDUFV1, NEB, NEDD4, NEFH, NEU1, NHLRC1, NIPA1, NKX2-1, NOL3, NOP56, NPC1, NPC2, NPHP1, NT5C2, OFD1, OPA1, OPA3, OPTN, PABPN1, PANK2, PARK2, PARK7, PAX6, PDGFB, PDGFRB, PDHX, PDSS1, PDSS2, PEX10, PEX2, PEX7, PFN1, PGAP1, PHYH, PIK3R5, PINK1, PLA2G6, PLEC, PLEKHG4, PLEKHG5, PLP1, PMM2, PMPCA, PNKD, PNKP, PNPLA6, PNPT1, POLG, POLG2, POLH, PPP2R2B, PQBP1, PRICKLE1, PRKCG, PRKRA, PRNP, PRPH, PRRT2, PSEN1, PTEN, PTS, QDPR, RAB29, RAB39B, RAB3GAP1, RAB3GAP2, RARS2, REEP1, REEP2, RELN, RNASEH2A, RNASEH2B, RNASEH2C, RNF170, RNF216, RPGRIP1L, RRM2B, RTN2, RUBCN, RYR1, SACS, SAMD9L, SAMHD1, SCN8A, SCO2, SCP2, SDHAF1, SERAC1, SETX, SGCE, SIGMAR1, SIL1, SLC16A2, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC25A15, SLC2A1, SLC30A10, SLC33A1, SLC46A1, SLC52A2, SLC52A3, SLC5A2, SLC6A3, SMPD1, SNCA, SNX14, SOD1, SPAST, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SPTBN2, STAC3, STIM1, STUB1, STXBP1, SUCLA2, SUOX, SYNE1, SYNJ1, SYT14, TAF1, TARDBP, TBP, TCTN1, TCTN2, TCTN3, TDP1, TECPR2, TFG, TGM6, TH, THAP1, TIA1, TIMM8A, TK2, TMEM138, TMEM216, TMEM230, TMEM231, TMEM237, TMEM240, TMEM67, TNNT1, TOR1A, TPK1, TPM2, TPM3, TPP1, TREM2, TREX1, TRIM32, TRPV4, TSEN2, TSEN34, TSEN54, TTBK2, TTC8, TTN, TTPA, TTR, TUBB4A, UBA1, UBQLN2, UCHL1, USP8, VAMP1, VAPB, VCP, VEGFA, VLDLR, VMA21, VPS13A, VPS13C, VPS35, VPS37A, VPS54, VRK1, WDPCP, WDR45, WDR48, WDR81, WFS1, WWOX, XPA, XPC, YARS2, ZFR, ZFYVE26, ZFYVE27, ZNF423, ZNF592
Northwest Clinical Genomics Lab 81479
Neoplasia Cytogenomic Microarray AnalysisChromosomal and sub-chromosomal deletions; Duplications or amplification; Loss of heterozygosity (LOH)
Whole Genome
Clinical Cytogenomics Laboratory 81406
Neurodegenerative Disorder PanelsYesNeurodegenerative Disease Panel
AARS2, ABAT, ABCD1, ACAT1, ACOX1, ACTB, ACVR1, ADAR, ADCK3, ADCY5, ADK, AFG3L2, AIMP1, AIRE, ALDH3A2, ALS2, ANG, ANO3, ANO5, AP1S2, APOE, APOPT1, APP, APTX, ARHGEF28, ARSA, ARX, ASAH1, ASPA, ATM, ATP13A2, ATP1A2, ATP1A3, ATP6AP2, ATP7A, ATP7B, ATPAF2, ATXN2, AUH, B3GALNT2, BAG3, BCAP31, BCS1L, BEST1, BIN1, BRAF, C10orf2, C19orf12, CA2, CACNA1A, CASQ1, CAV3, CCDC78, CFL2, CHCHD10, CHMP2B, CIZ1, CLCN2, CLN3, CLN5, CLN6, CLN8, CNTN1, COASY, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COMT, COQ2, COQ9, COX10, COX15, COX20, CP, CRYAB, CSF1R, CSTB, CTC1, CTSD, CTSF, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS, DARS2, DCAF17, DCTN1, DDC, DES, DGUOK, DLAT, DNA2, DNAJC13, DNAJC5, DNAJC6, DNM2, DNMT1, DRD2, DRD5, DYSF, DYT1, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF4G1, EPM2A, ERBB4, ERCC3, ERCC6, ERCC8, ETFDH, FA2H, FAM126A, FASTKD2, FBXL4, FBXO7, FHL1, FIG4, FKBP14, FKRP, FLNC, FOLR1, FOXG1, FOXRED1, FTL, FUCA1, FUS, GALC, GAMT, GAN, GATA3, GBA, GBE1, GCDH, GCH1, GFAP, GFM1, GIGYF2, GJA1, GJC2, GLA, GLB1, GNAL, GNAQ, GNE, GOSR2, GRN, GTF2H5, HACD1, HEPACAM, HEXA, HNRNPA1, HNRNPA2B1, HPRT1, HSD17B4, HSPD1, HTRA1, HTRA2, HTT, ISCU, ITM2B, KBTBD13, KCNMA1, KCNQ2, KCNT1, KCTD7, KIF1C, KLHL40, KLHL41, KLHL9, L2HGDH, LAMP2, LDB3, LMNB1, LMOD3, LRRK2, MAPT, MARS2, MAT1A, MATR3, MCOLN1, MECP2, MEGF10, MFSD8, MLC1, MLYCD, MMADHC, MPLKIP, MPV17, MR1, MRPS16, MRPS22, MSTN, MTFMT, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYOT, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NEB, NEFH, NEK1, NHLRC1, NKX2-1, NOTCH3, NPC1, NPC2, NUBPL, OCLN, OCRL, OPA1, OPTN, PABPN1, PAH, PANK2, PARK2, PARK7, PC, PDGFB, PDGFRB, PDHX, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFN1, PHGDH, PHYH, PINK1, PLA2G6, PLEC, PLP1, PNKD, PNPT1, POLG, POLG2, POLR3A, POLR3B, PPT1, PPT2, PRF1, PRICKLE1, PRICKLE2, PRKRA, PRNP, PRPH, PRPS1, PRRT2, PSAP, PSAT1, PSEN1, PSEN2, PSMB8, PTEN, PTPN11, PTS, QDPR, RAB29, RAB39B, RAF1, RARS2, REPS1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, ROGDI, RRM2B, RYR1, SAMHD1, SCARB2, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SERAC1, SETX, SGCE, SIGMAR1, SIL1, SLC16A2, SLC17A5, SLC19A3, SLC20A2, SLC25A1, SLC25A12, SLC25A15, SLC25A4, SLC2A1, SLC30A10, SLC46A1, SLC6A3, SMPD1, SNCA, SOD1, SOX10, SPAST, SPEG, SPG11, SPG20, SPG21, SPG7, SPR, SQSTM1, SRRT, STAC3, STIM1, STX11, STXBP1, SUCLA2, SUMF1, SUOX, SURF1, SYNJ1, TACO1, TAF1, TARDBP, TARS2, TBK1, TBP, TH, THAP1, TIA1, TIMM8A, TK2, TMEM230, TNNT1, TOR1A, TPK1, TPM2, TPM3, TPP1, TREM2, TREX1, TRIM32, TTC3, TTN, TUBB4A, TUFM, TYMP, TYROBP, UBQLN2, UCHL1, UNC13D, VAPB, VARS, VCP, VEGFA, VMA21, VPS13A, VPS13C, VPS35, VPS37A, VPS54, WDR45, YARS2, ZFYVE26, ZNF592
Northwest Clinical Genomics Lab 81479
Neuromuscular Disorder PanelsYesHeritable Neuromuscular Disorders
AARS, ABHD12, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACVR1, ADCY6, AGL, AGRN, AIFM1, ALG13, ALG14, ALG2, AMPD1, ANO5, ARHGEF10, ASAH1, ATL1, ATL3, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, BSCL2, C10orf2, C12orf65, CAPN3, CASQ1, CAV3, CCDC78, CCT5, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNTN1, CNTNAP1, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, COLQ, COX6A1, CPT2, CRYAB, CTDP1, DAG1, DCAF8, DCTN1, DES, DHTKD1, DMD, DNA2, DNAJB2, DNAJB6, DNM2, DNMT1, DOK7, DPAGT1, DPM2, DPM3, DST, DYNC1H1, DYSF, ECEL1, EGR2, EMD, ENO3, ERBB3, ETFA, ETFB, ETFDH, FAM134B, FBLN5, FBN2, FBXO38, FGD4, FHL1, FIG4, FKBP10, FKBP14, FKRP, FKTN, FLNC, FUS, GAA, GAN, GARS, GBE1, GDAP1, GFPT1, GJB1, GLE1, GMPPB, GNB4, GNE, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HARS, HINT1, HK1, HNRNPA1, HNRNPA2B1, HNRNPDL, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, ISCU, ISPD, ITGA7, KARS, KBTBD13, KIF1A, KIF1B, KIF5A, KLHL40, KLHL41, KLHL9, LAMA2, LAMC1, LAMP2, LARGE, LAS1L, LDB3, LDHA, LITAF, LMNA, LMOD3, LPIN1, LRP4, LRSAM1, MARS, MATR3, MED25, MEGF10, MFN2, MPZ, MSTN, MTM1, MTMR14, MTMR2, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH8, MYOT, NALCN, NDRG1, NEB, NEFL, NGF, NTRK1, OPA1, ORAI1, PABPN1, PDHA1, PDK3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PIP5K1C, PLEC, PLEKHG5, PLOD2, PMP22, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRPS1, PRX, PTRF, PUS1, PYGM, RAB7A, RAPSN, RBCK1, REEP1, RRM2B, RYR1, SBF1, SBF2, SCN10A, SCN11A, SCN4A, SCN9A, SCO2, SEPN1, SEPT9, SGCA, SGCB, SGCD, SGCG, SH3TC2, SIL1, SLC12A6, SLC16A1, SLC22A5, SLC25A20, SLC5A7, SMCHD1, SNAP25, SOX10, SPEG, SPTLC1, SPTLC2, STAC3, STIM1, SUCLA2, SURF1, SYNE1, SYNE2, SYT2, TAZ, TCAP, TFG, TIA1, TK2, TMEM43, TMEM5, TNNI2, TNNT1, TNNT3, TNPO3, TPM2, TPM3, TRAPPC11, TRIM2, TRIM32, TRPV4, TTN, TTR, TUBB3, TYMP, UBA1, VAPB, VCP, VMA21, VRK1, WNK1, YARS, YARS2, ZC4H2
Northwest Clinical Genomics Lab 81479
OI and Genetic Bone Disorders Panel30 gene panelOsteogenesis Imperfecta and Genetic Bone Disorders
ALPL, B3GAT3, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, GORAB, IFITM5, LRP5, MBTPS2, NBAS, P3H1/LEPRE1, P4HB, PLOD2, PLOD3, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7/OSX, SPAC, TAPT1, TMEM38B, TNFRSF11B, WNT1, XYLT2
Collagen Diagnostic Lab 81479
Osteopetrosis Panel14 gene panelOsteopetrosis
AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Collagen Diagnostic Lab 81479
Panel on DemandYesPossible Genetic Disorder
Selected genes
Northwest Clinical Genomics Lab 81479
Prenatal TestingKnown Familial Mutations, Osteogenesis Imperfecta
Collagen Diagnostic Lab 81479
Recessive OI Panel + ALPL13 gene panelOsteogenesis Imperfecta
ALPL, BMP1, CREB3L1, CRTAP, FKBP10, P3H1/LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7/OSX, TMEM38B, WNT1
Collagen Diagnostic Lab 81479
REFLEX to Exome SequencingPossible genetic disorder
Coding sequence of the genome
Northwest Clinical Genomics Lab 81417
Retinal Dystrophy PanelYesRetinal Dystrophy
ABCA4, ABCC6, ABCD1, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, AHI1, AIPL1, ALMS1, AMACR, ARL13B, ARL2BP, ARL3, ARL6, ATF6, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C12orf65, C1orf71 (CNST), C1QTNF5, C21orf2, C2orf71, C5orf42, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH15, CDH23, CDH3, CDHR1, CEP164, CEP250, CEP290 (BBS14), CEP41, CERKL, CFH, CHM, CIB2, CISD2, CKAP4, CLN14, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COH1 (VPS13B), CRB1, CRX, CSPP1, CTNNA1, CTSD, CTSF, CYP4V2, DFNB31, DGKQOAT, DHDDS, DHX38, DNAJC5, DRAM2, DTHD1, EFEMP1, ELOVL4, EMC1, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GDF6, GJB2, GJB6, GNAT1, GNAT2, GPR125, GPR179, GPR98 (ADGRV1), GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS, HCN1, HGSNAT, HK1, HMCN1, HMX1, IDH3B, IFT140, IFT172, IFT27, IFT81, IMPDH1, IMPG1, IMPG2, INVS, ITM2B, JAG1, KIF11, KIF7, KIZ, LAMA1, MFN2, MFSD8, MIR204, MKKS, MKS1, MMACHC, MTTP, MVK, MYO7A, NDP, NEK2, NEUROD1, NMNA, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OFD1, OPA1, OPA3, OR2W3, OTX2, PANK2, PAX2, PCDH15, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGK1, PHYH, PITPNM3, PLA2G5, PLK4, PMPCA, PNPLA6, POC1B, PPT1, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2 (RDS), PRPS1, RAB28, RAX2, RBP3, RBP4, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, RTN4IP1, SAB, SDCCAG8, SEMA4A, SLC24A1, SLC25A46, SLC4A7, SLC7A14, SNRNP200, SPATA7, SPP2, T1, TCTN1, TCTN2, TCTN3, TEAD1, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TPP1, TREX1, TRIM32, TRNT1, TRPM1, TSPAN12, TTC21B, TTC8, TTLL10, TTLL5, TTPA, TUB, TUBGCP4, TUBGCP6, TULP1, UNC119, USH1G, USH2A, VCAN, WDPCP, WDR19, WFS1, ZNF513
Northwest Clinical Genomics Lab 81434
Testing for Known Mutation/Familial VariantAll diseases
All genes
Collagen Diagnostic Lab
Testing for Known Pathogenic VariantAll diseases
All genes
Northwest Clinical Genomics Lab 81479
Y Chromosome Microdeletion AnalysisMale Infertility
AMELY, CDY1, DAZ, DBY, HSFY1, RBMY1, SRY, USP9Y
Clinical Cytogenomics Laboratory 81403

© 2017 UW Medicine Center For Precision Diagnostics. All rights reserved.
University of Washington, UW Medicine Pathology.
Schildbach Design, Web Designer & Logo Designer